Erythropoietic protoporphyria, mild variant
Gene: CLPX
CLPX (caseinolytic mitochondrial matrix peptidase chaperone subunit)
EnsemblGeneIds (GRCh38): ENSG00000166855
EnsemblGeneIds (GRCh37): ENSG00000166855
OMIM: 615611, Gene2Phenotype
CLPX is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000166855
EnsemblGeneIds (GRCh37): ENSG00000166855
OMIM: 615611, Gene2Phenotype
CLPX is in 2 panels
1 review
Aleš Maver (Clinical Institute of Medical Genetics)
Entry is based on a single report (PMID: 28874591) of a novel missense variant in CPLX gene (p.Gly298Asp) in a family with erythropoietic protoporphyria. The mutation is reported to occur in the ATPase active site of human CLPX, p.Gly298Asp, and it stated by authors that it results in pathological accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX).Three heterozygous members of the family are reported - the proband is affected, while the two relatives have been reported to have free and zinc-PPIX accumulation in erythrocytes and associated mild photosensitivity, but are without the complete clinical symptoms of EPP.
Sources: OtherCreated: 26 Nov 2021, 1:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
28874591
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- 28874591
- OMIM
- 615611
- Clinvar variants
- Variants in CLPX
- Penetrance
- unknown
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
26 Nov 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Aleš Maver (Clinical Institute of Medical Genetics)gene: CLPX was added gene: CLPX was added to Erythropoietic protoporphyria, mild variant. Sources: Other Mode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CLPX were set to 28874591 Penetrance for gene: CLPX were set to unknown Mode of pathogenicity for gene: CLPX was set to Other Review for gene: CLPX was set to RED